Severe disseminated cytomegalovirus infection in immunocompetent patients

Not applicable

All ages

Severe early-childhood-onset retinal dystrophy

Autosomal recessive

Childhood, Infancy

Severe early-onset axonal neuropathy due to MFN2 deficiency

Autosomal recessive

Childhood

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Autosomal recessive

Childhood, Infancy

Severe generalized junctional epidermolysis bullosa

Autosomal recessive

Infancy, Neonatal

Severe hereditary thrombophilia due to congenital protein C deficiency

Autosomal dominant, Autosomal recessive

Neonatal

Severe hereditary thrombophilia due to congenital protein S deficiency

Autosomal recessive

Infancy, Neonatal

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

Autosomal recessive

Neonatal

Severe intellectual disability and progressive spastic paraplegia

Autosomal recessive

Infancy, Neonatal

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Autosomal dominant

Infancy, Neonatal

Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

X-linked recessive

Infancy, Neonatal

Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency

Autosomal recessive

Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency

Autosomal recessive

Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency

Autosomal recessive

Neonatal

Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract

Autosomal dominant

Infancy, Neonatal

Severe primary trimethylaminuria

Autosomal recessive

Childhood, Infancy

Sex cord-stromal tumor of testis

Adolescent, Adult

Shigellosis

Not applicable

All ages

Short chain acyl-CoA dehydrogenase deficiency

Autosomal recessive

Childhood, Infancy, Neonatal

Short fifth metacarpals-insulin resistance syndrome

Autosomal dominant

Adolescent

Short stature due to GHSR deficiency

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Short stature due to partial GHR deficiency

Unknown

Childhood

Short stature due to primary acid-labile subunit deficiency

Autosomal recessive

Infancy, Neonatal

Short stature-advanced bone age-early-onset osteoarthritis syndrome

Autosomal dominant

Adolescent, Childhood